Case Report: Clinical Outcome From Pallidal Stimulation in a Patient With Levodopa-Resistant Dopa-Responsive Dystonia
Dopa-responsive dystonia (DRD) is a group of movement disorders with genetic and clinical heterogeneity. Dramatic response to levodopa is the hallmark of DRD. Therefore, DRD cases with poor response to levodopa are rarely reported. In addition, the clinical outcomes from deep brain stimulation (DBS)...
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Frontiers Media S.A.
2022-06-01
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| Series: | Frontiers in Neurology |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fneur.2022.921577/full |
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| author | Xue Wang Shanshan Mei Zichen Tian Lin Wang Guiliang Hao Xin Zhu Wei Mao Jianyu Li |
| author_facet | Xue Wang Shanshan Mei Zichen Tian Lin Wang Guiliang Hao Xin Zhu Wei Mao Jianyu Li |
| author_sort | Xue Wang |
| collection | DOAJ |
| description | Dopa-responsive dystonia (DRD) is a group of movement disorders with genetic and clinical heterogeneity. Dramatic response to levodopa is the hallmark of DRD. Therefore, DRD cases with poor response to levodopa are rarely reported. In addition, the clinical outcomes from deep brain stimulation (DBS) in levodopa-resistant patients remain unclear. Here, we described the clinical outcome of pallidal stimulation in a DRD patient having a poor response to levodopa. The patient was a 25-year-old man and had a 7-year history of cervical dystonia. A novel frameshift mutation in the GCH1 gene was found in the patient as well as his elder sister and mother. Unfortunately, he had no response to a large dosage of levodopa/benserazide (600/150 mg per day) and onabotulinumtoxin A injection. Therefore, bilateral globus pallidus internus (GPi) deep brain stimulation (DBS) was performed. With parameter adjustments, the severity of his torticollis was gradually improved and relieved substantially in the 8-month follow-up visit. Our current report highlights that GPi-DBS therapy leads to promising clinical outcomes for levodopa-resistant DRD. |
| first_indexed | 2024-12-11T18:22:01Z |
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| institution | Directory Open Access Journal |
| issn | 1664-2295 |
| language | English |
| last_indexed | 2024-12-11T18:22:01Z |
| publishDate | 2022-06-01 |
| publisher | Frontiers Media S.A. |
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| series | Frontiers in Neurology |
| spelling | doaj.art-eef587b5fd7543ec8076d38ec28c7dfe2022-12-22T00:55:14ZengFrontiers Media S.A.Frontiers in Neurology1664-22952022-06-011310.3389/fneur.2022.921577921577Case Report: Clinical Outcome From Pallidal Stimulation in a Patient With Levodopa-Resistant Dopa-Responsive DystoniaXue Wang0Shanshan Mei1Zichen Tian2Lin Wang3Guiliang Hao4Xin Zhu5Wei Mao6Jianyu Li7Department of Neurology, Xuanwu Hospital of Capital Medical University, Beijing, ChinaDepartment of Neurology, Xuanwu Hospital of Capital Medical University, Beijing, ChinaDepartment of Biology, Carleton College, Northfield, MN, United StatesDepartment of Neurology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Beijing, ChinaDepartment of Functional Neurosurgery, Xuanwu Hospital of Capital Medical University, Beijing, ChinaDepartment of Neurology, Beijing BoRen Hospital, Beijing, ChinaDepartment of Neurology, Xuanwu Hospital of Capital Medical University, Beijing, ChinaDepartment of Functional Neurosurgery, Xuanwu Hospital of Capital Medical University, Beijing, ChinaDopa-responsive dystonia (DRD) is a group of movement disorders with genetic and clinical heterogeneity. Dramatic response to levodopa is the hallmark of DRD. Therefore, DRD cases with poor response to levodopa are rarely reported. In addition, the clinical outcomes from deep brain stimulation (DBS) in levodopa-resistant patients remain unclear. Here, we described the clinical outcome of pallidal stimulation in a DRD patient having a poor response to levodopa. The patient was a 25-year-old man and had a 7-year history of cervical dystonia. A novel frameshift mutation in the GCH1 gene was found in the patient as well as his elder sister and mother. Unfortunately, he had no response to a large dosage of levodopa/benserazide (600/150 mg per day) and onabotulinumtoxin A injection. Therefore, bilateral globus pallidus internus (GPi) deep brain stimulation (DBS) was performed. With parameter adjustments, the severity of his torticollis was gradually improved and relieved substantially in the 8-month follow-up visit. Our current report highlights that GPi-DBS therapy leads to promising clinical outcomes for levodopa-resistant DRD.https://www.frontiersin.org/articles/10.3389/fneur.2022.921577/fulldopa-responsive dystoniadeep brain stimulationglobus pallidus internuslevodopa-resistantGCH-I mutation |
| spellingShingle | Xue Wang Shanshan Mei Zichen Tian Lin Wang Guiliang Hao Xin Zhu Wei Mao Jianyu Li Case Report: Clinical Outcome From Pallidal Stimulation in a Patient With Levodopa-Resistant Dopa-Responsive Dystonia Frontiers in Neurology dopa-responsive dystonia deep brain stimulation globus pallidus internus levodopa-resistant GCH-I mutation |
| title | Case Report: Clinical Outcome From Pallidal Stimulation in a Patient With Levodopa-Resistant Dopa-Responsive Dystonia |
| title_full | Case Report: Clinical Outcome From Pallidal Stimulation in a Patient With Levodopa-Resistant Dopa-Responsive Dystonia |
| title_fullStr | Case Report: Clinical Outcome From Pallidal Stimulation in a Patient With Levodopa-Resistant Dopa-Responsive Dystonia |
| title_full_unstemmed | Case Report: Clinical Outcome From Pallidal Stimulation in a Patient With Levodopa-Resistant Dopa-Responsive Dystonia |
| title_short | Case Report: Clinical Outcome From Pallidal Stimulation in a Patient With Levodopa-Resistant Dopa-Responsive Dystonia |
| title_sort | case report clinical outcome from pallidal stimulation in a patient with levodopa resistant dopa responsive dystonia |
| topic | dopa-responsive dystonia deep brain stimulation globus pallidus internus levodopa-resistant GCH-I mutation |
| url | https://www.frontiersin.org/articles/10.3389/fneur.2022.921577/full |
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